纳热尔综合征并轴前多指（趾）畸形：一个致死结局的新病例

Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome.

作者信息

Petit P, Moerman P, Fryns J P

机构信息

Centre for Human Genetics, University of Leuven, Belgium.

出版信息

Genet Couns. 1993;4(2):135-7.

PMID:8357565

Abstract

A sporadic malformed premature stillborn showing the typical craniofacial features of mandibulofacial dysostosis combined with unilateral extra thumb and visceral anomalies is described and classified as a preaxial acrofacial dysostosis of the Nager type (NAFD). Comparison with other rare similar cases reported in the literature is made and genetic heterogeneity discussed.

摘要

描述了一例散发的畸形早产死胎，其表现出下颌面骨发育不全的典型颅面特征，伴有单侧多指及内脏异常，被归类为纳格型（NAFD）的轴前性肢端面骨发育不全。并与文献中报道的其他罕见类似病例进行了比较，讨论了遗传异质性。